The improvement of molecular biology technologies and the increasing number of researchers interested in inherited thrombocytopaenias (ITs) has led to a significant expansion in knowledge of the genetic basis and clinical features of the different types of IT. In particular, it is now well known that an inherited ‘low platelet count’ can be the unique abnormal laboratory finding of the disease, combined with a bleeding tendency usually proportionate to the extent of the thrombocytopaenia, or can associate with different congenital and/or acquired signs and symptoms, or with predisposition to other diseases. Therefore, recognising syndromic forms and their main features is crucial for the proper management of patients, who rely on appropriate follow-up and treatments beyond those for simply preventing and/or treating bleeding. Among all syndromic ITs, this review aims to describe those predisposing to hematological malignancies (such as the familial platelet disorder with predisposition to acute myelogenous leukaemia and the ANKRD26-related thrombocytopaenia), and to bone marrow aplasia (with particular regard to congenital amegakaryocytic thrombocytopaenia), as well as to summarise the main characteristics of MYH9-related diseases, one of the most frequent forms of IT, which expose patients to the risk of developing additional features such as cataract, sensorineural deafness, alteration of liver enzymes, and/or a glomerulonephritis that usually evolves into end-stage renal failure.
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